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Article

Hyperferritinemia and iron overload in type 1 Gaucher disease.

American journal of hematology - 1 Jul 2010

Stein Philip, Yu Hannah, Jain Dhanpat, Mistry Pramod K

Abstract excerpt

Hyperferritinemia occurs in Gaucher disease but its clinical spectrum or its association with systemic iron overload and HFE mutations are not known. In 114 patients with Type 1 Gaucher disease, we determined serum ferritin, transferrin saturation and HFE genotype. The results were correlated with the extent of hepatosplenomegaly, overall Gaucher disease severity score index, and response to enzyme replacement...

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Identifiers

PMID: 20575041
DOI: 10.1002/ajh.21721
PMCID: PMC2895498

Genes

HFE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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